Angelman Syndrome (AS)

Angelman Syndrome, also known as as, is related to prader-willi syndrome and angelman syndrome due to imprinting defect in 15q11-q13, and has symptoms including constipation, seizures and tremor, limb. An important gene associated with Angelman Syndrome is UBE3A (Ubiquitin Protein Ligase E3A), and among its related pathways/superpathways are GABA B receptor activation and Prader-Willi and Angelman syndrome. The drugs Dopamine and Levodopa have been mentioned in the context of this disorder. Affiliated tissues include tongue and eye, and related phenotypes are seizure and eeg abnormality